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AAGCCAGGCACTCCGGCCAGGGCTG[C/T]TGCAATCTCCTTAGAGAAACCTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 608972 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CRTC2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CRTC2 - CREB regulated transcription coactivator 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_181715.2 | 2056 | Missense Mutation | ACA,GCA | T,A 633 | NP_859066.1 | |
XM_005244946.1 | 2056 | Missense Mutation | ACA,GCA | T,A 638 | XP_005245003.1 | |
XM_005244949.2 | 2056 | Missense Mutation | ACA,GCA | T,A 525 | XP_005245006.1 | |
XM_017000575.1 | 2056 | Missense Mutation | ACA,GCA | T,A 560 | XP_016856064.1 | |
XM_017000576.1 | 2056 | Missense Mutation | ACA,GCA | T,A 555 | XP_016856065.1 | |
XM_017000577.1 | 2056 | Missense Mutation | ACA,GCA | T,A 537 | XP_016856066.1 | |
XM_017000578.1 | 2056 | Missense Mutation | ACA,GCA | T,A 532 | XP_016856067.1 | |
XM_017000579.1 | 2056 | Missense Mutation | ACA,GCA | T,A 427 | XP_016856068.1 |
DENND4B - DENN domain containing 4B | ||||||
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There are no transcripts associated with this gene. |